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Familial Coagulation Factor V Deficiency Caused by a Novel 4 Base Pair Insertion in the Factor V Gene: Factor V Stanford

Journal: Thrombosis and Haemostasis
ISSN: 0340-6245
Issue: 1999: 82/3 (Sept) pp.1005-1206
Pages: 1097-1099

Familial Coagulation Factor V Deficiency Caused by a Novel 4 Base Pair Insertion in the Factor V Gene: Factor V Stanford

J. L. Zehnder, D. D. Hiraki, C. D. Jones, N. Gross, F. C. Grumet
From the Departments of Pathology and Medicine (Hematology), Stanford University School of Medicine, Stanford, CA, USA

Summary

An index patient with pseudohomozygosity for factor V Leiden was identified. Each of his two children inherited a different paternal factor V allele; a daughter was heterozygous for factor V Leiden, with 100% factor V activity, and a son was heterozygous for factor V deficiency, with 50% factor V activity. Genomic DNA was obtained from family members, and the 25 factor V exons and flanking intronic regions were sequenced in the proband and confirmed in the children. Within exon 13 of factor V, a 4 base insertion was found at NT 2856 in the proband and son, but not the daughter. This mutation, here designated factor V Stanford, results in a frameshift with loss of a thrombin activation site (R1545V) and premature termination of translation at amino acid 1560.